Distinct gene-set burden patterns underlie common generalized and focal epilepsies.

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第一作者： Mahmoud,Koko

第一单位： Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller Str. 27, Tübingen 72076, Germany.

作者： Mahmoud,Koko ^[1] ; Roland,Krause ^[2] ; Thomas,Sander ^[3] ; Dheeraj Reddy,Bobbili ^[2] ; Michael,Nothnagel ^[4] ; Patrick,May ^[5] ; Holger,Lerche ^[6] ; Epi25 Collaborative

作者单位： Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller Str. 27, Tübingen 72076, Germany. ^[1] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 6 Avenue du Swing, Belvaux 4367, Luxembourg. ^[2] Cologne Center for Genomics, University of Cologne, Faculty of Medicine and Cologne University Hospital, Weyertal 115b, Cologne 50931, Germany. ^[3] Cologne Center for Genomics, University of Cologne, Faculty of Mathematics and Natural Sciences and Cologne University Hospital, Weyertal 115b, Cologne 50931, Germany. ^[4] Luxembourg Centre for Systems Biomedicine, University of Luxembourg, 6 Avenue du Swing, Belvaux 4367, Luxembourg. Electronic address: patrick.may@uni.lu. ^[5] Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller Str. 27, Tübingen 72076, Germany. Electronic address: holger.lerche@uni-tuebingen.de. ^[6]

关键词 Burden analysis Epilepsy Exome sequencing Gene-sets Ultra-rare variants

主题词病例对照研究(Case-Control Studies);癫痫, 部分性(Epilepsies, Partial);癫痫, 全身性(Epilepsy, Generalized);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);全基因组关联研究(Genome-Wide Association Study);人类(Humans);男(雄)性(Male)

DOI 10.1016/j.ebiom.2021.103588

PMID 34571366

发布时间 2022-12-07

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EBioMedicine

2021年72卷

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Distinct gene-set burden patterns underlie common generalized and focal epilepsies.

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Distinct gene-set burden patterns underlie common generalized and focal epilepsies.

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